Screening Children at Risk for Retinoblastoma: Consensus Report from the American Association of Ophthalmic Oncologists and Pathologists.
Academic Article
Overview
abstract
PURPOSE: To provide a set of surveillance guidelines for children at risk for development of retinoblastoma. DESIGN: Consensus panel. PARTICIPANTS: Expert panel of ophthalmic oncologists, pathologists, and geneticists. METHODS: A group of members of the American Association of Ophthalmic Oncologists and Pathologists (AAOOP) with support of the American Association for Pediatric Ophthalmology and Strabismus and the American Academy of Pediatrics (AAP) was convened. The panel included representative ophthalmic oncologists, pathologists, and geneticists from retinoblastoma referral centers located in various geographic regions who met and discussed screening approaches for retinoblastoma. A patient "at risk" was defined as a person with a family history of retinoblastoma in a parent, sibling, or first- or second-degree relative. MAIN OUTCOME MEASURES: Screening recommendations for children at risk for retinoblastoma. RESULTS: Consensus statement from the panel: (1) Dedicated ophthalmic screening is recommended for all children at risk for retinoblastoma above the population risk. (2) Frequency of examinations is adjusted on the basis of expected risk for RB1 mutation. (3) Genetic counseling and testing clarify the risk for retinoblastoma in children with a family history of the disease. (4) Examination schedules are stratified on the basis of high-, intermediate-, and low-risk children. (5) Children at high risk for retinoblastoma require more frequent screening, which may preferentially be examinations under anesthesia. CONCLUSIONS: Risk stratification including genetic testing and counseling serves as the basis for screening of children at elevated risk for development of retinoblastoma.
